Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MABS Embryology > Embryo Anomalies > Flashcards

Embryo Anomalies Flashcards

check on learning

1
Q

duct can persist and form a cyst in the tongue or anterior portion of the neck&raquo_space; may perforate the skin after an infection to become a thyroglossal duct sinus

A

thyroglossal duct cysts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

over 5% of the population has an abnormal number or abnormal distribution pattern

A

variation in vertebra number

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

chondrification center fails to form on one side of vertebral body&raquo_space; half of vertebra never forms

produces lateral curvature of the spine or scoliosis (other causes as well)

A

hemivertebra

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

failure of the calvaria to develop&raquo_space; other severe anomalies concurrent

A

acrania

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

deformities resulting from premature closure of sutures

different forms determined by which suture closed prematurely

A

craniosynostosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

occurs in ~1% of infants but asymptomatic until adulthood

A

anomalies of the craniovertebral junction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

autosomal dominant trait resulting in lack of long bone elongation

characterized by large head, normal torso and short limbs

A

achondroplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

excessive secretion of growth hormone resulting in giantism

A

congenital hyperpituitarism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

result of hypersecretion of growth hormone after epiphyseal plate has closed&raquo_space; major characteristics include large mandible, hands, feet, nose and ears

A

acromegaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

caused by severe hyposecretion of thyroid hormone

A

cretinism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

slight variations in form, position or attachments common and usually insignificant

vestigial and accessory muscles typically asymptomatic

A

anomalies of skeletal muscles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

shortened sternocleidomastoid

thought to be due to birthing trauma but genetics and/or fetal developmental position may also play a role

A

congenital torticollis (wry neck)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

(cleft hand/foot) failure of one or more digital rays to develop&raquo_space; results in hand/foot being divided into two parts that oppose each other

A

ectrodactyly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

shortness of phalanges&raquo_space; autosomal dominant trait

A

brachydactyly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

supernumerary digits&raquo_space; common autosomal dominant trait

A

polydactyly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

two or more digits fused together

can be cutaneous or osseous

A

syndactyly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

foot turned medially and inverted

multifactorial inheritance (genetics plus in utero position)

A

congenital talipes (clubfoot)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

capsule of hip relaxed and underdevelopment of head of femur&raquo_space; dislocation occurs during birth

A

congenital hip dislocation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

complete and partial absence of limb&raquo_space; extremely rare other than due to thalidomide

A

amelia and meromelia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

small brain and cranium but normal sized face

results in gross mental retardation

can be due to autosomal recessive gene or environmental factors such as in utero infection with cytomegalovirus

A

microcephaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

failure of cleavage of the cerebrum

affected infants usually die within 6 months

several genes have been implicated with environmental influences

A

holoprosencephaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

most of infant’s brain exudes from skull&raquo_space; may be left with only brainstem and improper vascularization also present

A

exencephaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

failure of the bones of the cranium close

A

cranium bifidum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

small defect in which only the meninges containing CSF herniate

A

cranial meningeocele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

large defect in which part of the brain and the meninges herniate

A

meningoencephalocele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

very large defect in which the meninges and a part of the brain contain containing a portion of the ventricular system herniate

A

meningohydroencephalocele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

neural tube defects involving vertebral arches&raquo_space; result from defective closure of caudal neuropore

A

spina bifida

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

failure of vertebral arches to fuse in median plane

A

spina bifida occulta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

severe forms of spina bifida in which spinal cord and/or meninges protrudes through defect

A

spina bifida cystica

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

sac contains meninges and CSF but spinal cord in normal position

A

spina bifida with meningeocele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

sac contains meninges and spinal cord

A

spina bifida with meningomyelocele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

neural ectoderm remains on surface

A

rachischis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

small cysts found in approximately 1/3 of individuals&raquo_space; only symptomatic if infected

A

urachal cysts

34
Q

superior or inferior portion of urachus remains patent, opening at either umbilicus or bladder respectively

A

urachal sinus

35
Q

rare condition in which entire urachus remains patent&raquo_space; provides mechanism for urine to escape through umbilicus

A

urachal fistula

36
Q

failure of testis to descend through abdominal wall

A

cryptorchidism

37
Q

testes pass through inguinal canal, but do not migrate into scrotum

A

ectopic testes

38
Q

anomalies can results in inguinal hernia and hydrocele

normally closes during perinatal period,

however this doesn’t always happen

A

fate of the inguinal canal

39
Q

urethral orifice located along the ventral surface of the penis

A

hypospadias

40
Q

female fetus produces excessive amounts of androgens (most commonly due to congenital adrenal hyperplasia) causing masculinization to external genitalia

A

female pseudohermaphroditism

41
Q

heart moved to right and inverted like a mirror image the right side of the body&raquo_space; caused by improper initial bending of heart tube

A

dextrocardia

42
Q

heart only organ moved to opposite side of body

A

isolated dextrocardia

43
Q

heart and abdominal viscera mirror imaged to opposite side of body

A

dextrocardia situs inversus

44
Q

heart located external to thoracic cavity

due to failure of lateral folds to properly close + agenesis of the sternum and loss of pericardial cavity

in no other major defects present&raquo_space; attempt to cover with skin

A

ectopia cordis

45
Q

due to anomalies of septum primum or septum secundum

A

ostium secundum ASDs

46
Q

septum primum fails to fuse with endocardial cushions thereby not closing foramen primum

A

endocardial cushion defect with patent foramen primum

47
Q

located near opening of superior vena cava&raquo_space; septum did not fully partition sinus venosus

A

sinus venosus ASDs

48
Q

no partitioning of atria due to all of the above ASDs in the infant

A

common atrium

49
Q

most common type of significant heart anomaly

A

ventricular septal defects

50
Q

failure of truncal ridges to form spiral septum

results in a single trunk that allows mixing of right and left ventricular blood or pulmonary arteries branch off of aorta (slide 20)

can also have unequal division of the truncus arteriosus

A

persistent truncus ateriosus

51
Q

most common form of cyanotic heart disease in newborns

aorta empties right ventricle and pulmonary trunk empties left
ventricle

typically accompanied by ASDs and VSDs, and possibly patent ductus ateriosus

A

transposition of the great vessels

52
Q

coloboma of the iris&raquo_space; can be a genetic trait

A

failure of optic fissure to complete close

53
Q

rare defect in which portions/remnant of hyaloid vessels remain intact

A

persistent hyaloid artery

54
Q

opaque dot on lens where hyaloid artery attached

A

Mittendorf’s dot

55
Q

opaque lens

A

congenital cataracts

can be genetic or caused by a teratogen (rubella or radiation most common)

56
Q

inner and outer layers fail to fuse

A

congenital retinal detachment

57
Q

occurs between pigmented epithelium and neural retina

A

non-congenital retinal detachment

58
Q

typically presents as a small notch in superior eyelid

A

coloboma of the eyelids

59
Q

from malformation of external or middle ear

A

conducting deafness

60
Q

from malformation of inner ear

A

sensineural deafness

61
Q

most common cause with multiple genes involved

A

genetic

62
Q

malformation of organ of Corti

A

Rubella

63
Q

general term for a group of hyper-keratinization disorders&raquo_space; dry, fish-like scaling of skin

A

ichthyosis

64
Q

genetic recessive trait where skin and hairs lack pigment

A

albinism

65
Q

genetic dominant trait resulting in patches of albinism

A

piebaldism

66
Q

benign skin tumors resulting from the overgrowth of small blood vessels &raquo_space; typically enlarge for a few months after birth and then shrink and disappear by 5-10 years

A

infantile angiomas

67
Q

excessive development of mammary glands in males

A

gynomastia

68
Q

supernumerary breasts

A

polymastia

69
Q

supernumerary nipples

A

polythelia

70
Q

present at birth&raquo_space; painful nursing, lacerate tongue or can fall out and be aspirated

A

natal teeth

71
Q

results in pits and/or fissures in teeth

underlying causes = rickets, tetracycline, infectious diseases and idiopathic

A

enamel hypoplasia

72
Q

spherical masses of enamel formed by aberrant masses of ameloblasts

A

enamel pearls

73
Q

supernumerary teeth that develop in area of maxillary incisors&raquo_space; may disrupt eruption or position of normal teeth

A

mesiodens

74
Q

one or more teeth absent&raquo_space; familial trait

A

partial anodontia

75
Q

rare condition resulting from congenital ectodermal dysplasia

A

complete anodontia

76
Q

fusion of two adjacent teeth (most common) or partial splitting of a single tooth during development

A

macrodontia

77
Q

yellowish/brown teeth resulting from hypocalcification of enamel&raquo_space; dominant inheritance

A

ameliogenesis imperfecta

78
Q

brown or bluish gray teeth resulting from hypocalcification of dentin

dominant inheritance and fairly common among Caucasians

A

dentiogenesis imperfecta

79
Q

foreign materials incorporated into forming enamel

A

discolored teeth

80
Q

lue/black teeth due to incorporation of hemoglobin

A

hemolytic disease of newborns

81
Q

results in greenish teeth

A

hyper bilirubinemia

82
Q

maternal use can result in brown/yellow coloring of teeth

A

tetracyclines

MABS Embryology (17 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions